Varaico: Literature-Extracted Genetic Variants

Gene:CR1
Variant:p.R339H
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CR1

NM_000651.6:p.R339H

Associated Papers

Using whole-genome sequencing to characterize clinically significant blood groups among healthy older Australians.

Jadhao S et al.

Blood Advances, 2022

35420653 (PubMed )
Supplement: mmc1.xlsx › Supplementary_table3

Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women.

Carmina E et al.

Human Reproduction Update, 2017

[21-Hydroxylase deficiency (nonclassical type)].

Usui T

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2006

Mutations in steroid 21-hydroxylase (CYP21).

White PC et al.

Human Mutation, 1994

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."